Canonical Allele Identifier: CA499236860

Gene: NF1

Linked Data

• ClinVar Variation Id: 1594791
• ClinVar RCV Id: RCV002108086
• dbSNP Id: rs2069870191
• gnomAD v4: 17-31343125-C-T
• MyVariant Identifiers: chr17:g.29670143C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343125C>T , CM000679.2:g.31343125C>T	GRCh38
NC_000017.10:g.29670143C>T , CM000679.1:g.29670143C>T	GRCh37
NC_000017.9:g.26694269C>T	NCBI36
NG_009018.1:g.253149C>T , LRG_214:g.253149C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7161C>T	ENSP00000512431.1:p.His2387=
ENST00000684826.1:c.1743C>T	ENSP00000509994.1:p.His581=
ENST00000687027.1:c.1335C>T	ENSP00000508715.1:p.His445=
ENST00000687863.1:n.3824C>T
ENST00000689464.1:c.118C>T
ENST00000691014.1:c.7209C>T	ENSP00000510595.1:p.His2403=
ENST00000693617.1:c.1743C>T	ENSP00000510031.1:p.His581=
ENST00000358273.9:c.7179C>T MANE Select	ENSP00000351015.4:p.His2393=
ENST00000356175.7:c.7116C>T	ENSP00000348498.3:p.His2372=
ENST00000358273.8:c.7179C>T	ENSP00000351015.4:p.His2393=
ENST00000456735.6:c.6114C>T	ENSP00000389907.2:p.His2038=
ENST00000471572.6:c.562C>T
ENST00000579081.5:c.7315C>T	ENSP00000462408.1:n.7315C>T
ENST00000581790.5:c.322C>T
ENST00000582892.1:n.421C>T
NM_000267.3:c.7116C>T , LRG_214t1:c.7116C>T	NP_000258.1:p.His2372=
NM_001042492.2:c.7179C>T , LRG_214t2:c.7179C>T	NP_001035957.1:p.His2393=
XM_005257983.1:c.7179C>T	XP_005258040.1:p.His2393=
XM_005257984.1:c.7116C>T	XP_005258041.1:p.His2372=
XM_006721922.1:c.7209C>T	XP_006721985.1:p.His2403=
XM_006721923.2:c.7170C>T	XP_006721986.1:p.His2390=
XM_006721924.1:c.7209C>T	XP_006721987.1:p.His2403=
XM_006721925.1:c.7146C>T	XP_006721988.1:p.His2382=
XM_006721926.2:c.7209C>T	XP_006721989.1:p.His2403=
XM_006721927.1:c.7209C>T	XP_006721990.1:p.His2403=
XM_011524852.1:c.7206C>T	XP_011523154.1:p.His2402=
XM_011524853.1:c.7170C>T	XP_011523155.1:p.His2390=
XM_011524854.1:c.7170C>T	XP_011523156.1:p.His2390=
XM_011524855.1:c.7170C>T	XP_011523157.1:p.His2390=
XM_011524856.1:c.7170C>T	XP_011523158.1:p.His2390=
XM_011524857.1:c.7209C>T	XP_011523159.1:p.His2403=
NM_001042492.3:c.7179C>T MANE Select	NP_001035957.1:p.His2393=